TY - JOUR
T1 - Candidate-gene testing for orphan limb-girdle muscular dystrophies
AU - Aurino, S.
AU - Piluso, G.
AU - Saccone, V.
AU - Cacciottolo, M.
AU - D'Amico, F.
AU - Dionisi, M.
AU - Totaro, A.
AU - Belsito, A.
AU - Di Vicino, U.
AU - Nigro, Vincenzo
PY - 2008/12
Y1 - 2008/12
N2 - The term limb-girdle muscular dystrophies (LGMD) identify about two dozens of distinct genetic disorders. Additional genes must play a role, since there are LGMD families excluded from any known locus. The aim of our work is to test a number of candidate genes in unclassified LGMD patient and control DNA samples. We selected the following 11 candidate genes: myozenin 1, 2 and 3), gamma-filamin, kinectin-1, enolase-3 beta, ZASP, TRIM 11 and TRIM 17, OZZ and zeta -sarcoglycan. These candidates were chosen for a combination of different reasons: chromosomal position, sequence homology, interaction properties or muscular dystrophy phenotypes in animal models. The exon and flanking intron sequences were subjected to molecular testing by comparative mutation scanning by HT-DHPLC of LGMD patients versus control. We identified a large number of variations hi any of the genes in both patients and controls. Correlations with disease or possible modifying effects on the LGMD phenotype remain to be investigated.
AB - The term limb-girdle muscular dystrophies (LGMD) identify about two dozens of distinct genetic disorders. Additional genes must play a role, since there are LGMD families excluded from any known locus. The aim of our work is to test a number of candidate genes in unclassified LGMD patient and control DNA samples. We selected the following 11 candidate genes: myozenin 1, 2 and 3), gamma-filamin, kinectin-1, enolase-3 beta, ZASP, TRIM 11 and TRIM 17, OZZ and zeta -sarcoglycan. These candidates were chosen for a combination of different reasons: chromosomal position, sequence homology, interaction properties or muscular dystrophy phenotypes in animal models. The exon and flanking intron sequences were subjected to molecular testing by comparative mutation scanning by HT-DHPLC of LGMD patients versus control. We identified a large number of variations hi any of the genes in both patients and controls. Correlations with disease or possible modifying effects on the LGMD phenotype remain to be investigated.
KW - Limb-girdle muscular dystrophies
UR - http://www.scopus.com/inward/record.url?scp=64949099894&partnerID=8YFLogxK
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M3 - Article
C2 - 19472918
AN - SCOPUS:64949099894
VL - 27
SP - 90
EP - 97
JO - Acta Myologica
JF - Acta Myologica
SN - 1128-2460
IS - DEC.
ER -